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Digitale Medien

Erythrokeratoderma variabilis-like ichthyosis in Chanarin–Dorfman syndrome (2005)

Pujol, R.M. ; Gilaberte, M. ; Toll, A. ; [weitere]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 153 (2005), S. 0

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ISSN: 1365-2133

Quelle: Blackwell Publishing Journal Backfiles 1879-2005

Thema: Medizin

Notizen: Neutral lipid storage disease (Chanarin–Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal-looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin–Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1111/j.1365-2133.2005.06828.x

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Artikel (Nationallizenzen)

Volltext

Digitale Medien

Correspondenz (1859)

Fischer, J. A.

Springer

Plant systematics and evolution 9 (1859), S. 25-26

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ISSN: 1615-6110

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie